Skip to content

Main content

Pharmacogenomic Variant Hgvs Prefix Token Tool

Split a versioned HGVS accession prefix without validating the variant or reference sequence.

Loading tool…

Description

Split a versioned HGVS accession prefix without validating the variant or reference sequence.

Pharmacogenomic records distinguish allele labels, copy counts, reference-sequence versions, coordinate systems, and evidence about chromosome phase. A balanced count or matching token can check a record without establishing the underlying genotype. Supplied activity values and interpretation rules remain separate from a current gene-specific clinical guideline.

Split a versioned HGVS accession prefix without validating the variant or reference sequence.

When to use this tool

Use Pharmacogenomic Variant Hgvs Prefix Token when you need this specific allele-token, reference-coordinate, copy-budget, or source-support check.

How to use the tool and how it works

  1. Enter token. Use the units and conventions below.
  2. Run the tool. Correct any format, range, or cross-field input error before interpreting the output.
  3. Read accession, coordinateSystem, description. Use the output convention below.

Match a versioned ASCII accession followed by a colon, one coordinate-system token c,g,m,o,n,r,p and a period, then a nonempty description. Reject carriage returns or line feeds and return accession, coordinateSystem, and the remaining description literally.1

HGVS notation separates a versioned reference identifier from a variant description with a colon. The local prefix recognizer does not verify that reference or parse the complete variant.2

Input fieldMeaning and unitsAccepted input
tokenComplete literal token in the grammar stated above.Required. Text; maximum UTF-16 length 8192.
Output fieldInterpretationReturned shape
accessionAccessionRequired. Text; maximum UTF-16 length 8192.
coordinateSystemCoordinate SystemRequired. Text; maximum UTF-16 length 8192.
descriptionLiteral nonempty variant suffix; its internal grammar is unvalidated.Required. Text; maximum UTF-16 length 8192.
json
{
  "input": {
    "token": "NM_000123.4:c.12A>G"
  },
  "output": {
    "accession": "NM_000123.4",
    "coordinateSystem": "c",
    "description": "12A>G"
  }
}

Limitations and assumptions

  • This only separates a supported prefix grammar. The variant body is not parsed, normalized, or checked against a reference sequence, and the accepted letters do not certify full HGVS compliance.
  • Inputs must satisfy both the field types and the cross-field conditions above. Invalid input causes an error; a successful false flag or documented placeholder is a different result.

Alternative or Complementary methods

Use a current gene-specific nomenclature and a validated interpretation process when allele identity, phase, function, or clinical decisions matter. Verify source versions and reference coordinates before combining records.

References

  1. Calculation and input contract: pharmacogenomics/pharmacogenomic-variant-hgvs-prefix-token — tool.io

  2. HGVS Nomenclature: Reference Sequences — HGVS Nomenclature

Similar or alternative tools